Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

被引：0

作者：

Cas Simons

Lachlan D Rash

Joanna Crawford

Linlin Ma

Ben Cristofori-Armstrong

David Miller

Kelin Ru

Gregory J Baillie

Yasemin Alanay

Adeline Jacquinet

François-Guillaume Debray

Alain Verloes

Joseph Shen

Gözde Yesil

Serhat Guler

Adnan Yuksel

John G Cleary

Sean M Grimmond

Julie McGaughran

Glenn F King

Michael T Gabbett

Ryan J Taft

机构：

[1] Institute for Molecular Bioscience,Department of Pediatrics

[2] The University of Queensland,Department of Genetics

[3] Kinghorn Centre for Clinical Genomics,Department of Medical Genetics

[4] Garvan Institute of Medical Research,Department of Integrated Systems Biology

[5] Pediatric Genetics,Department of Pediatrics

[6] Acibadem University School of Medicine,undefined

[7] Center for Human Genetics,undefined

[8] Centre Hospitalier Universitaire and University of Liège,undefined

[9] Assistance Publique des Hôpitaux de Paris (AP-HP),undefined

[10] Robert Debré Hospital,undefined

[11] INSERM UMR 1141,undefined

[12] Robert Debré Hospital,undefined

[13] Medical Genetics and Metabolism,undefined

[14] Children's Hospital Central California,undefined

[15] Bezmialem Vakif University School of Medicine,undefined

[16] Real Time Genomics,undefined

[17] Ltd.,undefined

[18] Wolfson Wohl Cancer Research Centre,undefined

[19] Institute for Cancer Sciences,undefined

[20] University of Glasgow,undefined

[21] Genetic Health Queensland,undefined

[22] Royal Brisbane and Women's Hospital,undefined

[23] School of Medicine,undefined

[24] The University of Queensland,undefined

[25] School of Medicine,undefined

[26] Griffith University,undefined

[27] School of Medicine and Health Sciences,undefined

[28] George Washington University,undefined

[29] School of Medicine and Health Sciences,undefined

[30] George Washington University,undefined

[31] Illumina,undefined

[32] Inc.,undefined

来源：

Nature Genetics | 2015年 / 47卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Cas Simons, Ryan Taft and colleagues report the identification of KCNH1 mutations in six individuals with Temple-Baraitser syndrome (TBS). Electrophysiological measurements of cells expressing mutant KCNH1 channels show decreased activation thresholds and slower deactivation in comparison to wild-type channels, suggesting that these mutations lead to gain of function of KCNH1.

引用

页码：73 / 77

页数：4

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